DISEASES - autosomal recessive nonsyndromic deafness 1A

Human genes for autosomal recessive nonsyndromic deafness 1A

Autosomal recessive nonsyndromic deafness 1A [DOID:0110475]

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.

Synonyms: autosomal recessive nonsyndromic deafness 1A, DOID:0110475, autosomal recessive deafness 1A, DFNB1A

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.